Infants frequently experience sleep problems in early childhood. Poor infant sleep can impact not only infants' cognitive development but also maternal sleep and maternal mental health. Studies have reported associations between infant sleep and maternal sleep and between infant sleep and maternal depression.
View Article and Find Full Text PDFIdentifying causative gene(s) within disease-associated large genomic regions of copy-number variants (CNVs) is challenging. Here, by targeted sequencing of genes within schizophrenia (SZ)-associated CNVs in 1,779 SZ cases and 1,418 controls, we identified three rare putative loss-of-function (LoF) mutations in OTU deubiquitinase 7A (OTUD7A) within the 15q13.3 deletion in cases but none in controls.
View Article and Find Full Text PDFAccurately selecting relevant alleles in large sequencing experiments remains technically challenging. Bystro ( https://bystro.io/ ) is the first online, cloud-based application that makes variant annotation and filtering accessible to all researchers for terabyte-sized whole-genome experiments containing thousands of samples.
View Article and Find Full Text PDFBMC Bioinformatics
January 2017
Background: Targeted resequencing offers a cost-effective alternative to whole-genome and whole-exome sequencing when investigating regions known to be associated with a trait or disease. There are a number of approaches to targeted resequencing, including microfluidic PCR amplification, which may be enhanced by multiplex PCR. Currently, there is no open-source software that can design next-generation multiplex PCR experiments that ensures primers are unique at a genome-level and efficiently pools compatible primers.
View Article and Find Full Text PDFSchizophrenia research has undergone a recent transformation. By leveraging large sample sizes, genome-wide association studies of common genetic variants have approximately tripled the number of candidate genetic loci. Rare variant studies have identified copy number variants that are schizophrenia risk loci.
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